rs63751061

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs63751061(C;C)

Make rs63751061(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

96896790

Gene	KLHL32, NDUFAF4

is a	snp
is	mentioned by
dbSNP	rs63751061
dbSNP (classic)	rs63751061
ClinGen	rs63751061
ebi	rs63751061
HLI	rs63751061
Exac	rs63751061
Gnomad	rs63751061
Varsome	rs63751061
LitVar	rs63751061
Map	rs63751061
PheGenI	rs63751061
Biobank	rs63751061
1000 genomes	rs63751061
hgdp	rs63751061
ensembl	rs63751061
geneview	rs63751061
scholar	rs63751061
google	rs63751061
pharmgkb	rs63751061
gwascentral	rs63751061
openSNP	rs63751061
23andMe	rs63751061
SNPshot	rs63751061
SNPdbe	rs63751061
MSV3d	rs63751061
GWAS Ctlg	rs63751061

Max Magnitude

0

OMIM	611776
Desc
Variant	0001
Related	also

ClinVar
Risk	rs63751061(C;C)
Alt	rs63751061(C;C)
Reference	Rs63751061(T;T)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFAF4 KLHL32
CLNDBN	Mitochondrial complex I deficiency
Reversed	1
HGVS	NC_000006.11:g.97344666A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000826.2,

[PMID 18179882] C6ORF66 is an assembly factor of mitochondrial complex I.